Supporting healthcare professionals to offer reproductive genetic carrier screening: a behaviour change theory approach

Introduction

Reproductive genetic carrier screening (RGCS) is genetic testing which provides information to people about their chance of having children affected by an autosomal recessive or X-linked genetic condition. If a reproductive couple is found to have an ‘increased chance’ for offspring with a genetic condition there is usually a one in four chance of the condition for each child they have (Borry et al. 2017). This information can be used to inform reproductive decision-making. Historically, the international use of RGCS has been restricted to selected populations at elevated risk for one or a small number of conditions, and more recently has been accessed regardless of a priori risk on a user-pays basis (Henneman et al. 2016). In Australia, the cost of user-pays carrier screening for a 3-gene panel (cystic fibrosis, fragile X and spinal muscular atrophy) is between AUD350–400 and for an expanded panel AUD579–2200 (Leibowitz et al. 2022). There are Medicare items that cover part of the cost of carrier screening for select conditions and circumstances, with limited availability for tests requested by primary healthcare professionals. This current approach not only imposes a financial barrier but risks failing to identify most ‘increased chance’ couples because of the recessive nature of the conditions whereby most affected children are born to parents with no family history (Archibald et al. 2018). International and Australian peak bodies (The Royal Australian College of Obstetricians and Gynaecologists 2019; Royal Australian College of General Practitioners 2020) now recommend that information about RGCS is provided to all individuals planning a pregnancy or in early pregnancy.

Technological advances that enable multiple conditions to be screened at once, coupled with a reduction in costs, means that the integration of population wide RGCS programs in public health services is now feasible (van der Hout et al. 2017). Indeed, the Australian federal government has announced plans to make RGCS for cystic fibrosis, spinal muscular atrophy and fragile X syndrome freely available from late 2023 (Medical Services Advisory Committee 2020). In the lead up to this announcement, an Australian-wide research study known as Mackenzie’s Mission investigated how to make a RGCS program easily accessible to all people who wish to have it (Archibald et al. 2022).

RGCS is a complex health intervention dependant on the timely interplay between patients and clinicians during the pre-conception and antenatal period. A wide array of healthcare professionals (HCPs) can play a role in offering RGCS, e.g. primary care specialists, public/private obstetricians, fertility specialists and clinical geneticists. As RGCS moves into mainstream health care, primary care professionals such as general practitioners (GPs) and midwives will play an essential role in delivering equitable care (Delatycki et al. 2019). GPs recognise they are well placed to offer RGCS (Archibald et al. 2016; Best et al. 2022) as they already provide a suite of antenatal care, and are most likely to see a couple prior to conception which is the preferred timing of RGCS as it avails a greater number of reproductive options (Schuurmans et al. 2019). Yet compared to obstetricians, challenges to incorporating RGCS into routine clinical practice remain, and uptake amongst GPs is not high (Kizirian et al. 2019; Leibowitz et al. 2022). Known barriers to HCPs involve hurdles at various stages including lack of HCP knowledge and awareness, time constraints in appointments, a lack of patient resources and concerns about skills to deliver post-test counselling (Best et al. 2021).

Incorporating RGCS into day-to-day practice requires a change in HCP behaviour. Given the complexity of RGCS and multi-level barriers, it is clear a targeted approach to support HCPs offering RCGS is required. Implementation science provides a rigorous mechanism to generate contextually specific strategies to promote the uptake of clinical evidence into routine practice (Bauer and Kirchner 2020). Theory-based implementation frameworks, when used to inform data collection and analysis, enables a stepwise approach to selecting and developing strategies that are supported by evidence. One framework that sits at the core of behaviour change is the COM-B (Michie et al. 2011). The COM-B argues that behaviour (B) is changed by modifying one or more of three factors: Capability (psychological and/or physical), Opportunity (societal and/or physical), and Motivation (automatic and/or reflective). Once identified, the relevant COM-B components can be mapped to a matrix (Fig. 1) and the intervention strategy(ies) that are likely to be appropriate and effective in addressing the barriers can be selected (Michie et al. 2011). In this study, we aimed to identify and prioritise implementation strategies to reduce barriers and enable HCPs, in particular those in primary care, to routinely offer RGCS.

Fig. 1.

COM-B Framework components with associated interventions – adapted from Michie et al. (2011). Key: Shaded boxes indicate effectiveness of an intervention by Capability, Opportunity or Motivation component.

Methods

This survey study forms part of a larger implementation science programme that investigated influences on HCPs’ behaviour towards offering RGCS in the context of the Mackenzie’s Mission study. Mackenzie’s Mission was established as a couples-based screening program whereby reproductive couples, including individuals using gamete or embryo donors, were screened simultaneously. HCPs from various healthcare settings across Australia were invited by study genetic counsellors to become recruiters, and after completing an education session about RGCS and offering RGCS through the study, HCPs were able to offer RGCS to their patients who were planning or in early pregnancy. Once offered, couples could log onto an online portal, view education material, consent or decline testing and provide a mouth swab sample via the post to a participating laboratory for analysis. Couples would then receive their result online, or by a genetic counsellor if they were found to have an ‘increased chance’ of having children with a genetic condition. Fig. 2 illustrates the HCP and couple’s pathway to involvement in, and subsequent progression through, the Mackenzie’s Mission study. More details about Mackenzie’s Mission can be found in the literature (Archibald et al. 2022).

Fig. 2.

Pathway to participation in Mackenzie’s mission by healthcare professionals (HCPs) and couples.

For this study, HCPs involved in Mackenzie’s Mission (GPs, midwives, nurses, public/private obstetricians, fertility specialists, genetic counsellors and clinical geneticists) were invited to complete optional surveys at three time points throughout the programme. To accommodate the rolling recruitment of HCPs into the Mackenzie’s Mission study, Survey 1 and 2 were administered between February 2020 and November 2021 and Survey 3 between November 2021 and April 2022.

Surveys were completed online or in hardcopy, and data were stored online using REDCap software (see Table 1 for details). Survey 1 sought a range of HCP views on RGCS. To understand HCPs’ perceived barriers to offering RGCS prior to offering RGCS through the study we asked, ‘what do you think might deter HCPs from offering RGCS?’. Survey 2 captured HCP views after they had had an opportunity to offer RGCS. To identify possible supports derived from their experience of offering RGCS for approximately 8 weeks through the study we asked, ‘what would help you in offering RGCS?’. Together with 31 HCP interviews reported in detail elsewhere (Best et al. 2022), responses to the above question were collated to generate a list of potential ‘intuitive supports’ (i.e. practice-based enablers participants suggested) that may aid HCPs offering RGCS. To determine the priority of the ‘intuitive supports’, towards the conclusion of the Mackenzie’s Mission study, we asked HCPs to ‘rate how important the items would be in supporting them to offer RGCS, if they were provided ‘free of charge’ using a five-point Likert scale, ranging from ‘Not important at all’ to ‘Highly important’. Items were compulsory and pilot tested with the study genetic counsellors for comprehensibility.

Short answer responses (Survey 1 and 2) were analysed using inductive content analysis by experienced qualitative researchers (SB and ZF) (Vears and Gillam 2022) to identify perceived barriers and intuitive supports. Free text from 10 surveys was analysed independently before ZF completed the analysis. Fortnightly meetings were held (SB, ZF and JL) to discuss analysis, in particular for any challenging coding. Group discussions were used to classify frequently reported barriers and were further classified using the COM-B framework (Michie et al. 2011) to then link them with the associated highest ranking intuitive enablers (Fig. 1). For example, barriers associated with the COM-B code ‘physical capability’ i.e. knowledge, can be facilitated by training or enabling interventions e.g. facilitating access to knowledge. Quantitative survey data (Survey 3) were analysed through descriptive statistics using STATA ver. 12 (StataCorp LP) with results from the end of study survey prepared separately for primary care (GPs, GP/obstetricians, midwives and nurses) and tertiary care (clinical geneticists, genetic counsellors, obstetricians and fertility specialists) and further by clinic location. During analysis, the five-point Likert scale was collapsed into three categories ‘important’, ‘neutral’ and ‘not important’.

Results

Of the 990 HCPs who became study recruiters, a total of 599 HCPs (60% of the cohort) responded to Survey 1 and 358 HCPs (36% of the cohort) responded to Survey 2. Accounting for HCPs who had withdrawn from the study, of the 864 HCPs invited to complete Survey 3, 390 responses were received (45% of the cohort). Table 2 summarises the characteristics of survey respondents. Participants across the three time points were predominantly GPs based in metropolitan areas across Australia, comparable to the distribution of the Australian population with 28% of Australians living in regional or remote areas (Australian Institute of Health Welfare 2022). Prior to Mackenzie’s Mission, 74% of HCPs had previous experience offering RGCS. By the end of the study, on average, HCPs had been offering RGCS through Mackenzie’s Mission for around 1 year (55 weeks), however this ranged greatly from 14 to 100+ weeks. Most HCPs (46%) offered RGCS at least once a month, whereas 38% offered RGCS more frequently (weekly or daily).

Discussion

Four common concerns to offering RGCS were reported by HCPs before participating in Mackenzie’s Mission: low HCP skill, knowledge and/or awareness of RGCS; additional time required in consultations; the potential for patients to be unreceptive to RGCS; and HCP attitudes and beliefs about RGCS. These findings provide support for, and offer an extended analysis to advance, previous studies in this field (Best et al. 2021). Participants suggested 31 intuitive enablers to facilitate offering RGCS with both primary and tertiary care HCPs in agreement with some of the highest ranked i.e. regular CPD activities, a comprehensive website to direct patients to for further information on RGCS, and being part of a RGCS special interest group. Other enablers varied e.g. funding: primary care HCPs placed a higher priority on the need for screening to include genetic counselling for ‘increased chance’ couples. In previous studies, GPs have been identified as the ideal professionals to be offering counselling (Poppelaars et al. 2003) although needing additional training (Schuurmans et al. 2019). Of interest is that 86% of primary care HCPs wanted genetic counsellors to deliver increased chance results, suggesting that funding for counselling is related to equitable service provision. In contrast, tertiary care participants wanted to see additional services such as in vitro fertilisation (IVF). The support required for metro and regional/rural primary care HCPs to offer RGCS is an under-researched field and while our study demonstrates that many enablers were common across the piece, those working in regional/remote areas prioritised funding for longer consultations.

Drawing on behaviour change theory, the four reported barriers could be aligned with intuitive enablers (Table 6) (Taylor et al. 2020). Surprisingly, all these alignments tie in with COM-B evidence-based associated interventions of education and training, environmental restructuring and modelling, suggesting this is an efficient approach to identifying appropriate interventions to support HCPs to offer RGCS (Michie et al. 2011) that could have relevance to policy makers. Applying behaviour change theory to the development of enablers to support offering of RGCS can optimise HCP time by building on extant knowledge and so preventing the need to reinvent the wheel, provide information on how and why an intervention may (or may not) work and promote the use of theory informed intervention design and policy making (Bullock et al. 2021).

Some higher prioritised intuitive enablers did not match the reported barriers, i.e. primary care: funding screening to include genetic counselling for ‘increased chance’ couples; and specialty: additional services such as IVF and regional/remote, funding for longer consultations. This may reflect the data collection time points of barriers prior to offering RGCS. At the outset of a programme when barrier data are collected, priorities may centre on adoption and feasibility while later on, when enablers data are collected, priorities may shift to sustainability (Proctor et al. 2011). Funding for genetic testing has been established as a priority for some time (Holtkamp et al. 2017); however, our study reveals a more nuanced requirement for funding allocations across HCP specialities and locality. Although there is overlap, the needs of primary and tertiary HCPs are different and will require a differential policy response if the uptake of broad-based, including nationwide, RGCS is to be successfully implemented.

Our study moves away from anecdotal approaches to identifying clinicians’ needs (Mendelsohn 2021) and draws on rigorous methodology to ascertaining support for clinicians to offer RGCS. This study builds on the work of Leibowitz et al. (2022) who identify patterns in HCP participation in RGCS and here we provide theory and practice informed insights into the needs of Australian HCPs in order for them to routinely offer RGCS. As to limitations, response rates were impacted by the SARS-CoV-2 pandemic. The profile of our survey respondents largely mirrored the Australian population and while this is desirable it also means the absolute number of regional/remote responses were relatively few. This population would benefit from additional research to garner further insights into their individual challenges. Non-genetic HCPs such as practice nurses and midwives were poorly represented in this study and could be valuable future referrers for RGCS (Best et al. 2021). Our analysis included both primary and tertiary HCPs reflecting the study population. Further in-depth analysis could be gained by targeting specific specialists such as GPs.

All-in-all, in this study we have identified and prioritised implementation strategies to support how HCPs, in particular GPs, routinely offer RGCS in Australia. Although some enablers were found to be common across locality and speciality, such as a comprehensive website to direct patients to for information, there was a more nuanced picture of enablers that aligned with behaviour change theory. Funding in particular was requested for genetic counselling by primary care, additional services by specialty care and longer consultations by GPs in regional/remote areas. The significance of these findings is critical for policy makers if RGCS is to be widely adopted and thereby avoid the risk of inequitable service provision.

Supplementary material

Supplementary material is available online.

Data availability

The data that support this study will be shared upon reasonable request to the corresponding author.

Conflicts of interest

The authors declare that they have no conflicts of interest.

Declaration of funding

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission) is funded by the Australian Government’s Medical Research Future Fund as part of the Genomics Health Futures Mission (GHFM), grant GHFM73390 (MRFF-G-Mackenzie’s Mission). The grant is administered by the Murdoch Children’s Research Institute through Australian Genomics.